{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1140103349",
  "communityStandardTitle": [
    "NM_000651.6(CR1):c.6193A= (p.Ile2065=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/6691117",
        "rs": 6691117
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 207609586,
          "referenceAllele": "A",
          "start": 207609585
        }
      ],
      "hgvs": [
        "NC_000001.11:g.207609586A=",
        "CM000663.2:g.207609586A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 207782931,
          "referenceAllele": "A",
          "start": 207782930
        }
      ],
      "hgvs": [
        "NC_000001.10:g.207782931A=",
        "CM000663.1:g.207782931A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 205849554,
          "referenceAllele": "A",
          "start": 205849553
        }
      ],
      "hgvs": [
        "NC_000001.9:g.205849554A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 118459,
          "referenceAllele": "A",
          "start": 118458
        }
      ],
      "hgvs": [
        "NG_007481.1:g.118459A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000604"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6304,
          "referenceAllele": "A",
          "start": 6303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002334",
      "geneNCBI_id": 1378,
      "geneSymbol": "CR1",
      "hgvs": [
        "ENST00000367049.9:c.6193A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356016.4:p.Ile2065="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749915",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367049.9:c.6193A="
          },
          "RefSeq": {
            "hgvs": "NM_000651.6:c.6193A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356016.4:p.Ile2065="
          },
          "RefSeq": {
            "hgvs": "NP_000642.3:p.Ile2065="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4868,
          "referenceAllele": "A",
          "start": 4867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002334",
      "geneNCBI_id": 1378,
      "geneSymbol": "CR1",
      "hgvs": [
        "ENST00000367051.6:c.4843A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356018.1:p.Ile1615="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749916"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4868,
          "referenceAllele": "A",
          "start": 4867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002334",
      "geneNCBI_id": 1378,
      "geneSymbol": "CR1",
      "hgvs": [
        "ENST00000367052.6:c.4843A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356019.1:p.Ile1615="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749917"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4868,
          "referenceAllele": "A",
          "start": 4867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002334",
      "geneNCBI_id": 1378,
      "geneSymbol": "CR1",
      "hgvs": [
        "ENST00000367053.6:c.4843A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356020.1:p.Ile1615="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749918"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4964,
          "referenceAllele": "A",
          "start": 4963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002334",
      "geneNCBI_id": 1378,
      "geneSymbol": "CR1",
      "hgvs": [
        "ENST00000400960.7:c.4843A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383744.2:p.Ile1615="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753950"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6193,
          "referenceAllele": "A",
          "start": 6192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002334",
      "geneNCBI_id": 1378,
      "geneSymbol": "CR1",
      "hgvs": [
        "ENST00000367049.8:c.6193A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356016.4:p.Ile2065="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266168"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4954,
          "referenceAllele": "A",
          "start": 4953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002334",
      "geneNCBI_id": 1378,
      "geneSymbol": "CR1",
      "hgvs": [
        "ENST00000367051.5:c.4843A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356018.1:p.Ile1615="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266170"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4954,
          "referenceAllele": "A",
          "start": 4953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002334",
      "geneNCBI_id": 1378,
      "geneSymbol": "CR1",
      "hgvs": [
        "ENST00000367052.5:c.4843A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356019.1:p.Ile1615="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266171"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4954,
          "referenceAllele": "A",
          "start": 4953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002334",
      "geneNCBI_id": 1378,
      "geneSymbol": "CR1",
      "hgvs": [
        "ENST00000367053.5:c.4843A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356020.1:p.Ile1615="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266172"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4883,
          "referenceAllele": "A",
          "start": 4882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002334",
      "geneNCBI_id": 1378,
      "geneSymbol": "CR1",
      "hgvs": [
        "ENST00000400960.6:c.4843A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383744.2:p.Ile1615="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279168"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1179,
          "endIntronDirection": "-",
          "endIntronOffset": 6988,
          "referenceAllele": "A",
          "start": 1179,
          "startIntronDirection": "-",
          "startIntronOffset": 6989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002334",
      "geneNCBI_id": 1378,
      "geneSymbol": "CR1",
      "hgvs": [
        "ENST00000529814.1:c.1180-6989A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS355164"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4983,
          "referenceAllele": "A",
          "start": 4982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002334",
      "geneNCBI_id": 1378,
      "geneSymbol": "CR1",
      "hgvs": [
        "NM_000573.3:c.4843A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000564.2:p.Ile1615="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006628"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063881745",
      "coordinates": [
        {
          "allele": "A",
          "end": 6333,
          "referenceAllele": "A",
          "start": 6332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002334",
      "geneNCBI_id": 1378,
      "geneSymbol": "CR1",
      "hgvs": [
        "NM_000651.4:c.6193A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000642.3:p.Ile2065="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006698"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6309,
          "referenceAllele": "A",
          "start": 6308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002334",
      "geneNCBI_id": 1378,
      "geneSymbol": "CR1",
      "hgvs": [
        "XM_006711166.2:c.6208A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006711229.1:p.Ile2070="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068988"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6309,
          "referenceAllele": "A",
          "start": 6308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002334",
      "geneNCBI_id": 1378,
      "geneSymbol": "CR1",
      "hgvs": [
        "XM_011509205.1:c.6208A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011507507.1:p.Ile2070="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076473"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063881745",
      "coordinates": [
        {
          "allele": "A",
          "end": 6333,
          "referenceAllele": "A",
          "start": 6332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002334",
      "geneNCBI_id": 1378,
      "geneSymbol": "CR1",
      "hgvs": [
        "NM_000651.5:c.6193A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000642.3:p.Ile2065="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510828"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4959,
          "referenceAllele": "A",
          "start": 4958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002334",
      "geneNCBI_id": 1378,
      "geneSymbol": "CR1",
      "hgvs": [
        "XM_024453287.1:c.4858A="
      ],
      "proteinEffect": {
        "hgvs": "XP_024309055.1:p.Ile1620="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586669"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4954,
          "referenceAllele": "A",
          "start": 4953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002334",
      "geneNCBI_id": 1378,
      "geneSymbol": "CR1",
      "hgvs": [
        "NM_000573.4:c.4843A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000564.2:p.Ile1615="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063881745",
      "coordinates": [
        {
          "allele": "A",
          "end": 6304,
          "referenceAllele": "A",
          "start": 6303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002334",
      "geneNCBI_id": 1378,
      "geneSymbol": "CR1",
      "hgvs": [
        "NM_000651.6:c.6193A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000642.3:p.Ile2065="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674917",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367049.9:c.6193A="
          },
          "RefSeq": {
            "hgvs": "NM_000651.6:c.6193A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356016.4:p.Ile2065="
          },
          "RefSeq": {
            "hgvs": "NP_000642.3:p.Ile2065="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}